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Variant (rsID / SNP)

rs1805009

MC1R

rs1805009 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC1R. Location: chromosome 16, position 89,986,546. Clinical significance in the table: Benign/Likely benign; risk factor.

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Reference-table entries

MC1RBenign
Clinical significance (as recorded)
Benign/Likely benign; risk factor
Variant type
single nucleotide variant
Chromosome / position
16:89986546
Cytoband
16q24.3
HGVS
NM_002386.4(MC1R):c.880G>C (p.Asp294His)
Allele change
Missense_D294H

Associated conditions / phenotypes

Skin/hair/eye pigmentation 2, red hair/fair skin|Tyrosinase-positive oculocutaneous albinism|Skin and Hair Hypopigmentation|Melanoma, cutaneous malignant, susceptibility to, 5|Melanoma

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.